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Entry version 194 (16 Oct 2019)
Sequence version 1 (01 May 1999)
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Protein

Pre-mRNA-processing factor 6

Gene

PRPF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:28781166, PubMed:21549338). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O94906

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
O94906 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pre-mRNA-processing factor 6
Alternative name(s):
Androgen receptor N-terminal domain-transactivating protein 1
Short name:
ANT-1
PRP6 homolog
U5 snRNP-associated 102 kDa protein
Short name:
U5-102 kDa protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PRPF6
Synonyms:C20orf14
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:15860 PRPF6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613979 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O94906

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 60 (RP60)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry. Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065768729R → W in RP60; impaired function in pre-mRNA splicing; mislocalized in Cajal bodies; partial loss of localization in splicing speckles. 1 PublicationCorresponds to variant dbSNP:rs387907100EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
24148

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PRPF6

MalaCards human disease database

More...
MalaCardsi
PRPF6
MIMi613983 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101161

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25682

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O94906

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PRPF6

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002057591 – 941Pre-mRNA-processing factor 6Add BLAST941

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei143PhosphoserineCombined sources1
Modified residuei180PhosphothreonineCombined sources1
Modified residuei266PhosphothreonineCombined sources1
Modified residuei275PhosphothreonineCombined sources1
Modified residuei279PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O94906

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O94906

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O94906

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O94906

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O94906

PeptideAtlas

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PeptideAtlasi
O94906

PRoteomics IDEntifications database

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PRIDEi
O94906

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
50541 [O94906-1]
50542 [O94906-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O94906

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O94906

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O94906

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000101161 Expressed in 227 organ(s), highest expression level in tendon of biceps brachii

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O94906 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA047106

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Identified in the spliceosome B complex (PubMed:28781166). Identified in the spliceosome C complex (PubMed:11991638). Associates with the U5 snRNP particle (PubMed:10788320).

Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, LSm proteins LSm2-8 and Sm proteins (PubMed:16723661, PubMed:26912367, PubMed:28781166).

Interacts with ARAF1 (PubMed:10848612).

Interacts with AR and NR3C1, but not ESR1, independently of the presence of hormones (PubMed:12039962).

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117298, 137 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O94906

Database of interacting proteins

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DIPi
DIP-29006N

Protein interaction database and analysis system

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IntActi
O94906, 68 interactors

Molecular INTeraction database

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MINTi
O94906

STRING: functional protein association networks

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STRINGi
9606.ENSP00000266079

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O94906

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati384 – 416HAT 1Add BLAST33
Repeati418 – 444HAT 2Add BLAST27
Repeati445 – 476HAT 3Add BLAST32
Repeati554 – 586HAT 4Add BLAST33
Repeati588 – 620HAT 5Add BLAST33
Repeati622 – 654HAT 6Add BLAST33
Repeati689 – 721HAT 7Add BLAST33
Repeati723 – 755HAT 8Add BLAST33
Repeati855 – 887HAT 9Add BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi67 – 72Poly-Asp6

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0495 Eukaryota
ENOG410XRKD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00550000075016

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O94906

KEGG Orthology (KO)

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KOi
K12855

Identification of Orthologs from Complete Genome Data

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OMAi
RQRFYAV

Database of Orthologous Groups

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OrthoDBi
335779at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O94906

TreeFam database of animal gene trees

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TreeFami
TF105743

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003107 HAT
IPR010491 PRP1_N
IPR027108 Prp6/Prp1/STA1
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

The PANTHER Classification System

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PANTHERi
PTHR11246:SF1 PTHR11246:SF1, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF06424 PRP1_N, 1 hit
PF13181 TPR_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00386 HAT, 13 hits
SM00028 TPR, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452 SSF48452, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O94906-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNKKKKPFLG MPAPLGYVPG LGRGATGFTT RSDIGPARDA NDPVDDRHAP
60 70 80 90 100
PGKRTVGDQM KKNQAADDDD EDLNDTNYDE FNGYAGSLFS SGPYEKDDEE
110 120 130 140 150
ADAIYAALDK RMDERRKERR EQREKEEIEK YRMERPKIQQ QFSDLKRKLA
160 170 180 190 200
EVTEEEWLSI PEVGDARNKR QRNPRYEKLT PVPDSFFAKH LQTGENHTSV
210 220 230 240 250
DPRQTQFGGL NTPYPGGLNT PYPGGMTPGL MTPGTGELDM RKIGQARNTL
260 270 280 290 300
MDMRLSQVSD SVSGQTVVDP KGYLTDLNSM IPTHGGDIND IKKARLLLKS
310 320 330 340 350
VRETNPHHPP AWIASARLEE VTGKLQVARN LIMKGTEMCP KSEDVWLEAA
360 370 380 390 400
RLQPGDTAKA VVAQAVRHLP QSVRIYIRAA ELETDIRAKK RVLRKALEHV
410 420 430 440 450
PNSVRLWKAA VELEEPEDAR IMLSRAVECC PTSVELWLAL ARLETYENAR
460 470 480 490 500
KVLNKARENI PTDRHIWITA AKLEEANGNT QMVEKIIDRA ITSLRANGVE
510 520 530 540 550
INREQWIQDA EECDRAGSVA TCQAVMRAVI GIGIEEEDRK HTWMEDADSC
560 570 580 590 600
VAHNALECAR AIYAYALQVF PSKKSVWLRA AYFEKNHGTR ESLEALLQRA
610 620 630 640 650
VAHCPKAEVL WLMGAKSKWL AGDVPAARSI LALAFQANPN SEEIWLAAVK
660 670 680 690 700
LESENDEYER ARRLLAKARS SAPTARVFMK SVKLEWVQDN IRAAQDLCEE
710 720 730 740 750
ALRHYEDFPK LWMMKGQIEE QKEMMEKARE AYNQGLKKCP HSTPLWLLLS
760 770 780 790 800
RLEEKIGQLT RARAILEKSR LKNPKNPGLW LESVRLEYRA GLKNIANTLM
810 820 830 840 850
AKALQECPNS GILWSEAIFL EARPQRRTKS VDALKKCEHD PHVLLAVAKL
860 870 880 890 900
FWSQRKITKA REWFHRTVKI DSDLGDAWAF FYKFELQHGT EEQQEEVRKR
910 920 930 940
CESAEPRHGE LWCAVSKDIA NWQKKIGDIL RLVAGRIKNT F
Length:941
Mass (Da):106,925
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i91C2F1ADCA439BE9
GO
Isoform 2 (identifier: O94906-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     637-676: Missing.

Note: No experimental confirmation available.
Show »
Length:901
Mass (Da):102,429
Checksum:i23ADD30A75374402
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti20G → W in AAD01798 (PubMed:10848612).Curated1
Sequence conflicti223P → R in AAD01798 (PubMed:10848612).Curated1
Sequence conflicti284H → R in BAG50938 (PubMed:14702039).Curated1
Sequence conflicti421I → T in BAG36962 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069766477N → S Very rare variant found in a family with neuronal ceroid lipofuscinosis carrying a causative mutation in DNAJC5; uncertain role as a disease phenotype modifier. 1 PublicationCorresponds to variant dbSNP:rs1433048453Ensembl.1
Natural variantiVAR_065768729R → W in RP60; impaired function in pre-mRNA splicing; mislocalized in Cajal bodies; partial loss of localization in splicing speckles. 1 PublicationCorresponds to variant dbSNP:rs387907100EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_041857637 – 676Missing in isoform 2. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB019219 mRNA Translation: BAA37140.1
AF221842 mRNA Translation: AAF66128.1
AF026031 mRNA Translation: AAD01798.1
AK001554 mRNA Translation: BAG50938.1
AK314310 mRNA Translation: BAG36962.1
AL118506 Genomic DNA No translation available.
AL355803 Genomic DNA No translation available.
AL356790 Genomic DNA No translation available.
BC001666 mRNA Translation: AAH01666.1
AL137320 mRNA Translation: CAB70695.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13550.1 [O94906-1]

Protein sequence database of the Protein Information Resource

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PIRi
T46386

NCBI Reference Sequences

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RefSeqi
NP_036601.2, NM_012469.3 [O94906-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000266079; ENSP00000266079; ENSG00000101161 [O94906-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
24148

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:24148

UCSC genome browser

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UCSCi
uc002yho.4 human [O94906-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB019219 mRNA Translation: BAA37140.1
AF221842 mRNA Translation: AAF66128.1
AF026031 mRNA Translation: AAD01798.1
AK001554 mRNA Translation: BAG50938.1
AK314310 mRNA Translation: BAG36962.1
AL118506 Genomic DNA No translation available.
AL355803 Genomic DNA No translation available.
AL356790 Genomic DNA No translation available.
BC001666 mRNA Translation: AAH01666.1
AL137320 mRNA Translation: CAB70695.1
CCDSiCCDS13550.1 [O94906-1]
PIRiT46386
RefSeqiNP_036601.2, NM_012469.3 [O94906-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JCRelectron microscopy7.00G1-941[»]
5O9Zelectron microscopy4.50G1-941[»]
6AH0electron microscopy5.70N1-941[»]
6AHDelectron microscopy3.80N1-941[»]
6QW6electron microscopy2.925J1-941[»]
SMRiO94906
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi117298, 137 interactors
CORUMiO94906
DIPiDIP-29006N
IntActiO94906, 68 interactors
MINTiO94906
STRINGi9606.ENSP00000266079

Protein family/group databases

MoonDBiO94906 Predicted

PTM databases

iPTMnetiO94906
PhosphoSitePlusiO94906
SwissPalmiO94906

Polymorphism and mutation databases

BioMutaiPRPF6

Proteomic databases

EPDiO94906
jPOSTiO94906
MassIVEiO94906
MaxQBiO94906
PaxDbiO94906
PeptideAtlasiO94906
PRIDEiO94906
ProteomicsDBi50541 [O94906-1]
50542 [O94906-2]

Genome annotation databases

EnsembliENST00000266079; ENSP00000266079; ENSG00000101161 [O94906-1]
GeneIDi24148
KEGGihsa:24148
UCSCiuc002yho.4 human [O94906-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
24148
DisGeNETi24148

GeneCards: human genes, protein and diseases

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GeneCardsi
PRPF6
GeneReviewsiPRPF6
HGNCiHGNC:15860 PRPF6
HPAiHPA047106
MalaCardsiPRPF6
MIMi613979 gene
613983 phenotype
neXtProtiNX_O94906
OpenTargetsiENSG00000101161
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA25682

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0495 Eukaryota
ENOG410XRKD LUCA
GeneTreeiENSGT00550000075016
InParanoidiO94906
KOiK12855
OMAiRQRFYAV
OrthoDBi335779at2759
PhylomeDBiO94906
TreeFamiTF105743

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
SignaLinkiO94906

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PRPF6 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PRPF6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
24148
PharosiO94906

Protein Ontology

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PROi
PR:O94906

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000101161 Expressed in 227 organ(s), highest expression level in tendon of biceps brachii
GenevisibleiO94906 HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR003107 HAT
IPR010491 PRP1_N
IPR027108 Prp6/Prp1/STA1
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR11246:SF1 PTHR11246:SF1, 1 hit
PfamiView protein in Pfam
PF06424 PRP1_N, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00386 HAT, 13 hits
SM00028 TPR, 3 hits
SUPFAMiSSF48452 SSF48452, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPRP6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O94906
Secondary accession number(s): B2RAR5
, B3KMC6, O95109, Q5VXS5, Q9H3Z1, Q9H4T9, Q9H4U8, Q9NTE6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: May 1, 1999
Last modified: October 16, 2019
This is version 194 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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